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Menkes disease (kinky or steely hair disease)
Compare with Wilson's disease (hepato-lenticular degeneration). A congenital metabolic defect.
Pathology:
1) abnormally low levels of copper in the liver & brain
2) higher than normal levels in the kidney & intestine
3) extensive neurodegeneration in gray matter of the brain; cerebral & cerebellar degeneration
4) cerebral arteries may malformed resulting hemorrhage or thrombosis
5) connective-tissue disturbances
5) osteoporosis may result in fractures
Genetics:
- X-linked recessive
- associates with defects in ATP7A
Clinical manifestations:
1) premature birth
2) symptoms appear during infancy
3) development may be normal-slightly for 2 to 3 months, with subsequent marked developmental delay
4) failure to thrive
5) short, sparse, poorly pigmented kinky hair
6) physical & mental retardation
7) progressive severe deterioration of the brain
8) hypothermia
9) hypopigmentation
10) cutis laxa
11) vascular complications
12) death in early childhood
Management:
1) copper supplement SC or IV may be of some benefit
2) other treatment is symptomatic & supportive
3) prognosis is poor
-> most children die within the first decade of life
Related
copper transporting ATPase-1; copper pump-1; Cu+2-transporting ATPase alpha polypeptide; Menke's disease-associated protein (ATP7A, MNK)
hepatolenticular degeneration; Wilson's disease
Specific
Menke's disease/ATP7A mutation associated
General
inborn error of copper metabolism
metabolic brain disease
Database Correlations
OMIM 309400
References
- Stedman's Medical Dictionary 24th ed, Williams &
Wilkins, Baltimore, 1982
- NINDS Menkes Disease Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Menkes-Disease-Information-Page